Canonical Allele Identifier: CA363773387

Gene: FANCE

Linked Data

• ClinVar Variation Id: 2444831
• ClinVar RCV Id: RCV003154175
• MyVariant Identifiers: chr6:g.35423912G>C (hg19) ; chr6:g.35456135G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35456135G>C , CM000668.2:g.35456135G>C	GRCh38
NC_000006.11:g.35423912G>C , CM000668.1:g.35423912G>C	GRCh37
NC_000006.10:g.35531890G>C	NCBI36
NG_011708.1:g.8775G>C , LRG_498:g.8775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696264.1:c.637G>C	ENSP00000512511.1:p.Gly213Arg
ENST00000696265.1:c.637G>C	ENSP00000512512.1:p.Gly213Arg
ENST00000696266.1:c.355G>C	ENSP00000512513.1:p.Gly119Arg
ENST00000696267.1:n.277G>C
ENST00000229769.3:c.637G>C MANE Select	ENSP00000229769.2:p.Gly213Arg
ENST00000648059.1:c.637G>C	ENSP00000497902.1:p.Gly213Arg
ENST00000229769.2:c.637G>C	ENSP00000229769.2:p.Gly213Arg
NM_021922.2:c.637G>C , LRG_498t1:c.637G>C	NP_068741.1:p.Gly213Arg
XM_005248885.2:c.637G>C	XP_005248942.1:p.Gly213Arg
XM_005248886.2:c.637G>C	XP_005248943.1:p.Gly213Arg
XM_005248887.2:c.637G>C	XP_005248944.1:p.Gly213Arg
XM_005248888.2:c.637G>C	XP_005248945.1:p.Gly213Arg
XM_011514343.1:c.343G>C	XP_011512645.1:p.Gly115Arg
XM_011514344.1:c.343G>C	XP_011512646.1:p.Gly115Arg
XM_005248888.3:c.637G>C	XP_005248945.1:p.Gly213Arg
XM_011514343.2:c.343G>C	XP_011512645.1:p.Gly115Arg
XR_001743226.1:n.844G>C
XR_002956267.1:n.844G>C
NM_021922.3:c.637G>C MANE Select	NP_068741.1:p.Gly213Arg